Endocrine Disorders |
| |
Congenital adrenal hyperplasia (CAH)
|
| |
Congenital hypothyroidism |
| Hemoglobinopathies |
| |
Sickle cell disease and other sickling hemoglobinopathies |
| |
Apha and βeta thalassemia |
Metabolic Disorders |
| |
Biotinidase deficiency
|
| |
Cystic fibrosis (CF) |
| |
Galactosemia |
| |
Amino acid disorders |
| |
|
Phenylketonuria (PKU) / Hyperphenylalaninemia
|
| |
|
Maple syrup urine disease (MSUD) |
| |
|
Tyrosinemia, type 1 and possibly type 2 or type 3 - tyrosine levels may not be sufficiently elevated for detection |
| |
|
Homocystinuria / Hypermethioninemia |
| |
|
5-oxoprolinuria (glutathione synthetase deficiency) - may not be reliably detected in first days of life |
| |
Urea cycle disorders |
| |
|
Citrullinemia (argininosuccinate synthetase deficiency)
|
| |
|
Argininosuccinic aciduria (argininosuccinate lyase deficiency) |
| |
|
Argininemia - extremely rare |
| |
Organic acid disorders |
| |
|
2-methylbutyryl-CoA dehydrogenase deficiency (2MBD)
|
| |
|
3-methylcrotonyl-CoA carboxylase deficiency (3MCC) |
| |
|
3-hydroxy-3-methylglutaric-CoA lyase deficiency (3HMG) |
| |
|
3-methylglutaconic aciduria (3MGA) |
| |
|
Glutaric aciduria, type 1 (GA1) |
| |
|
Propionic acidemia (PA) |
| |
|
Isovaleric acidemia (IVA) |
| |
|
Methylmalonic acidemia (MMA) |
| |
|
Malonic aciduria (MA) - may not be reliably detected in first days of life |
| |
|
Beta-ketothiolase deficiency (BKT) |
| |
|
Multiple carboxylase deficiency (MCD) |
| |
Fatty acid oxidation disorders |
| |
|
Short chain acyl-CoA dehydrogenase deficiency (SCAD)
|
| |
|
Medium/Short chain L-3-hydroxyacyl-CoA-dehydrogenase deficiency (M/SCHAD) |
| |
|
Isobutyryl-CoA dehydrogenase deficiency (IBCD) |
| |
|
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) |
| |
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) |
| |
|
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) |
| |
|
Trifunctional protein deficiency (TFPD) |
| |
|
Carnitine palmitoyl transferase deficiency type 2 (CPT2) - neonatal form, extremely rare |
| |
|
Carnitine palmitoyl transferase deficiency type 1 (CPT1A) - may not be reliably detected in first days of life |
| |
|
Carnitine/acylcarnitine translocase deficiency (CACT) - neonatal form, extremely rare |
| |
|
Carnitine uptake defect (CUD) - may not be reliably detected in first days of life |
| |
|
Multiple acyl-CoA dehydrogenase deficiency (MADD) / Glutaric aciduria, type 2 (GA2) |
| |
Lysosomal Storage Diseases
(Statewide screening of newborns for lysosomal storage disorders is scheduled to begin in 2014.) |
| |
|
Fabry Disease |
| |
|
Gaucher Disease |
| |
|
Pompe Disease |
| |
|
Krabbe Disease |
| |
|
Niemann Pick Disease |
